Iranian Journal of Child Neurology

Abstract

Objective

Muscle biopsy is a part of paraclinical workup of patients with neuromuscular diseases. With great new advances in techniques of molecular diagnosis like next generation sequencing (NGS) and introducing new serologic markers in recent years, the strategy of diagnosis of some neuromuscular diseases has been changed and application of muscle biopsy has been questioned in some instances.

Materials and method

We explain role of pre and post muscle biopsy factors and their importance to achieve the best result from a muscle biopsy and review indications of muscle biopsy in different types of neuromuscular diseases based on literature review and our 12 years experience as the only standard referral center for muscle biopsy for a population of about 80 millions.

Conclusion

Although diagnostic algorithm of some muscle diseases has been changed by recent advances in diagnostic biochemical and molecular techniques, still muscle biopsy continues to play a major role in diagnosis and managing of neuromuscular patients and physicians must choose their preferable diagnostic test for their patient's, case by case, based on their local available facilities.

ABSTRACT

Background: This study investigated the effects of a manualized Contextual Intervention adapted for Autism Spectrum Disorders (CI-ASD), and essential elements of the intervention in promoting children’s participation and mothers’ parenting self-efficacy.

Methods: Researchers conducted a randomized controlled trial. Participants (36 parents of children with ASD) were randomly assigned to wait-list control or intervention groups. The intervention comprised contextually reflective occupational therapy combines 3 elements: sensory processing patterns, coaching, and social support. We provided the program to promote child’s participation and parent’s efficiency.  During phases 1 the participants in the intervention group received CI-ASD as long as Treatment As Usual (TAU) and during phase 2 they received TAU only. We completed the outcome measures at three time points (pre-intervention, post-intervention and follow-up). Researchers conducted semi-structured interviews post-intervention to explore acceptability of intervention and participants’ experiences of CI-ASD.

Results: The findings of the study indicate that CI-ASD can produce meaningful effects in eliminating sensory issues, promoting child participation and parenting efficiency in ASD families, compared to TAU. Parents reported high levels of acceptance and also confirmed the family’s achievements.

Conclusion: These gains suggest CI-ASD as an effective intervention for children who have ASD and their families, but further studies are needed to declare and generalize the findings over time. Estimated effect sizes were in the large and medium ranges and favored the intervention group.

Background: Rett Syndrome is characterized by normal development for the first 6–18 months of life followed by the loss of fine and gross motor skills and the ability to engage in social interaction. Mutations methyl CpG-binding protein 2 gene (MECP2) have been found in the majority of patients. This study was performed to investigate the relation of Rett clinical diagnosis and its relation with mutations in MECP2. Materials and Methods: children suspected to Rett syndrome were invited to take part in this study. Those who had met classic Rett syndrome diagnostic criteria were enrolled. Severity of symptoms was assessed for all patients. Of peripheral blood samples collected in EDTA tubes, the genomic DNA was extracted by standard salting out method. MEPC2 gene mutation was studied by DNA sequencing method. Results and conclusion: 23 patients accepted to participate in the study. 11(47.8%) patients had MECP2 gene mutation meanwhile 12 ones (52.2%) had no mutation. change in genetics was in association with phenotypical manifestations. The most prevalent mutation was p.v288 which is mostly in association with partially or uncontrolled seizures. This was the first time that Rett syndrome patients were studied in both clinical manifestations and genetic changes in Iran.

Objectives

Considering the common neurological origins, there is a relationship between the sensory gating and cognitive functions. However, there is no adequate information on this issue. In this study, auditory event-related potentials and the sensory gating performance were assessed in P50, N100 and P200 waves. Besides, their relationship with cognitive performance in auditory and visual modalities was investigated.

Materials & Methods

Nineteen normal primary school students (14 boys) were tested in Tehran, Iran from 2017 to 2018. In the auditory modality, the Persian version of the non-word repetition test and monaural selective auditory attention test (mSAAT) were used for assessment of the working memory and selective attention, respectively. In order to evaluate the visual working memory and visual selective attention, Rey-Osterrieth complex figure, selective and divided attention test were used, respectively. A 32-channel EEG system was used for electrophysiological assessment.

Results

The P50 sensory gating was negatively correlated with the visual selective attention (P=0.034, r=-0.49) and N100 sensory gating was negatively correlated with the auditory working memory (P=0.043, r=-0.48) as well as visual selective attention (P=0.039, r=-0.47). For P200, there was a significant negative relationship with auditory selective attention in the right ear (P=0.034, r=-0.49).

Conclusion

Sensory gating in children is not a modality-specific phenomenon. Sensory gating in a modality could be associated with cognitive functions in other modalities

We aimed to study the precipitating factors, demographic data, clinical and radiological manifestations, electroencephalography and laboratory findings, as well as association with infections, immunization and incidence of relapse of acute disseminated encephalomyelitis (ADEM) in children admitted to Mofid Children Hospital, Tehran, Iran from Mar 2013 to Mar 2016.

Materials & Methods

A 3-yr retrospective review of 29 children with definite final diagnosis of ADEM in Mofid Hospital in Tehran, Iran was performed. The diagnosis was based on specified criteria, including a presumed acute demyelinating process with no history of unexplained neurological symptoms and at least one demyelinating lesion shown on magnetic resonance imaging without evidence of previous destructive white matter lesions.

Results

Overall, 29 children diagnosed as ADEM were studied in terms of demographic characteristics, clinical manifestations and laboratory findings in two groups according to their recurrence. The mean age of the patients with recurrence was less than those without it were. It was more common in females but the difference was not statistically meaningful. There was no relationship between the season of the first episode of the disease and the recurrence incidence. Moreover, the relationship between viral infections and recurrence was statistically non-meaningful. No relationship between the recurrence of ADEM and clinical manifestations, radiological and laboratory findings was found.

Conclusion

The reason for high rate of recurrence in our patients may be related to the younger age of children in our study.

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Objectives

Speech sound production is poorer in stutterers than normally fluent peers. This study was performed to compare speech sound production abilities in Persian speaking children with developmental stuttering.

Materials & Methods

Overall, 34 children with stuttering and 60 children without stuttering aged from 3 to 6 yr old were enrolled from Ahvaz City, Khuzestan Province, southern Iran in 2016. The phonetic information test was used to assess speech sound production in this study and 30-minute mother-child conversations were utilized for calculation of Percentage Consonant Correct. Phonological abilities of these two groups were compared against each other and a correlation between stuttering severity and speech sound articulation was calculated.

Results

There was significant difference between children with stuttering and normal peers for articulation error total percentage but not significant difference was found for percentage consonant correct (P=0.16). Moreover, no significant correlation between stuttering severity and speech sound production in this population was found.

Conclusion

No association seems to exist between stuttering severity and speech sound production abilities in this population. This study may lead to the notion that there was significant difference between the two groups in speech sound production assessment.

Abstract

Objectives: The classic ketogenic diet (CKD) as a potential epilepsy treatment with high-fat has not a good tolerability in some patients, and so many families refuse to use this diet for long term especially in children younger than 2 years of age.  In the present study, the efficacy and tolerability of the only CKD was compared with CKD combined a formula-based powder in children between 1 and 3 years of age with intractable epilepsy.

Material and Methods: We prospectively enrolled 45 children with refractory epilepsy for CKD (control group), and CKD combined with a formula-based powder (experimental group) treatment. Subjects were followed up for at least six months.

Results: Most of the patients in control group did not tolerate the diet and were reluctant to eat homemade foods with high fat, as all the families of the patients younger than 2 years old in this group chose to discontinue the CKD and pursued other options.  33% of the families of patients younger than 2 years old and totally 41.6% patients between 1-3 years old in experimental group stayed to the end of the trial, and all of them showed more than 90% reduction in seizure  frequency after 6 months. Also, regardless of the other variables, the formula increased the chance of responding to treatment 7.32 times.

Conclusions: A ketogenic diet using a formula-based powder is effective, safe, and tolerable in infants and children with refractory seizure especially for younger patients who are reluctant to eat homemade foods. 

Objectives

The present study evaluated the depression and marital satisfaction in mothers of 36-48 months old children with developmental delay in comparison with mothers of normal children.

Materials & Methods

This cross-sectional study was performed on 616 mothers and their children, aged 36 - 48 months, from Apr 2015 to Feb 2016, in some kindergartens in Tehran, Iran. Participants were selected through multi-stage random sampling. The children were divided according to the developmental status into two groups of normal development and developmental delay. The following instruments were used: A demographic and children specification questionnaire, marital satisfaction scale, the Beck Depression Inventory, and the Ages and Stages Questionnaire.  The data were analyzed using SPSS16 software. Independent t-test and Pearson correlation were employed at significance level of 0.05.

Results

The mean age of children with developmental delay and normal development was 41.94±4.48 and 42.17±5.02 months, respectively. The prevalence of developmental delay in children aged 36-48 months was 17.4% and in normal development children was 82.6%. Developmental delay in boys was 23%. The highest incidence of developmental delays was in fine motor skills. Independent t-test revealed a significant difference between mothers' depression and marital satisfaction with and without developmental delays (P=0.0001). In addition, the correlation was observed between the mother’s depression and marital satisfaction (P=0.0001).

Conclusion

Mothers of children with developmental delay suffer more from depression and have less marital satisfaction compared to mothers of healthy children. Interventional studies to reduce depression and increase marital satisfaction and its impact on development status should be conducted.

Keywords: Depression; Developmental delay; Marital status; Satisfaction

Background: Febrile seizure is the most common disorder in childhood, with a prevalence of 2% to 5%. There are many drugs for treatment of this disease; however, the most common prescribed medication in Iran is phenobarbital that is cheap, but it has many side effects. Topiramate is a medication with fewer side effects that is currently prescribed in Iran only for patients with epilepsy; also, it has recently been prescribed and tested for children with febrile seizure. The aim of this study was to compare the cost-effectiveness of topiramate versus phenobarbital in patients with febrile seizure in the south of Iran in 2017.

Methods: This econometric cost-effectiveness and cost-utility study was conducted on 91 patients with febrile seizure to assess two strategies of oral drug therapy including phenobarbital and topiramate in 2016-2017. Of all, 51 patients were treated with phenobarbital and 40 patients received topiramate. In order to collect the required data, we followed up the patients for six months, using a randomized and single-blinded approach. In this study, a decision tree model was used. The outcomes of the model included febrile seizure and utility. The study was conducted from the perspective of the community; therefore, direct and indirect costs were included in the study. Excel and TreeAge software (2011) were used to analyze the results.

Results: The results showed that topiramate was cheaper and more effective than phenobarbital. In patients in the phenobarbital and topiramate groups, the mean costs were $740 and $674 per ppp, utility scores were 0.72 and 0.82, and febrile seizure without side effects were 0.3 and 0.6, respectively. Moreover, one-way sensitivity analysis confirmed the robustness of the results of the study.

Conclusion: According to the results, topiramate in patients with febrile seizure is a fully cost-effective and cost-efficient strategy that can be suggested as a better alternative for children with febrile seizure.

Abstract

Objectives:

We aimed to evaluate the efficacy of treadmill training on walkings peed and endurance and quality of life in ambulatory adults with spastic cerebral palsy (CP) versus traditional physiotherapy.

Material & Methods, Participants (17 men, 13 women; mean (SD) age 25y, 9m (7y, 10m) range 18y- 45y) with GMFCS levels I, II, and III, from the Ra’ad Rehabilitation Goodwill Complex, randomly allocated to the experimental and the control groups. The trainings (treadmill for experimental group and conventional physiotherapy for control group) conducted two times a week for 8 consecutive weeks. Main outcome measures were the 10 meter walk test for the gait speed, the 6 minute walk test for the gait endurance and the WHOQOL- Brief questionnaire for the quality of life. Assessments had done at the baseline, ninth and 16^th session (three times) during the treatment.

Results: Although the experimental group showed a significant improve in the gait speed [1.08(0.47)m/s to 1.22(0.50)m/s](P=0.004) and in the gait endurance [291.13(160.28)m to 342.63(174.62)]( P=0/002), but between groups changes of the outcome measures of walking and quality of life were not significant.

Conclusions: Treadmill training without body weight support would be no more effective than traditional physiotherapy to improve gait speed and endurance and quality of life in adults with spastic cerebral palsy. There is a hope to improve walking performance and function in adults with cerebral palsy. 

Abstract

Objective

Mirror therapy using visual feedback is one of the non-invasive methods along with other commonly used rehabilitation treatments for neurological patients whose therapeutic effects on the affected upper limb of children with hemiplegic cerebral palsy (CP) have also been studied. The aim of this study was to examine the effect of mirror therapy on improving the dexterity and grasp of children with hemiplegic CP.

Materials and Methods

In this single blind clinical trial, 30 children with hemiplegic CP in rehabilitation centers and special exceptional schools in Tabriz, Iran were randomly divided into two equal intervention (n=15) and control groups (n=15) in 2017. The children of the intervention group were under the mirror therapy for 6 weeks. Occupational therapy exercises were done routinely for both groups. The grasp with dynamometer and dexterity with box and block was measured. Data were analyzed by t-test and paired t-test.

Results

The results showed that the mean scores of the two groups in dexterity were significantly different after the intervention (P=0.008). However, there was no significant difference between the two groups in grasp (P>0.05).

Discussion and Conclusion

Mirror therapy in hemiplegic children is useful in improving the dexterity but not in improving of the grasp

Objectives

Nutritional factors affect the incidence, severity of symptoms and progression of multiple sclerosis (MS). However, the role of specific nutritional factors remains largely unknown in MS. We conducted this hospital-based case-controlled study to investigate the association between dietary intake and risk of MS.

Methods: This study was conducted on 93 MS patients and 94 age-matched controls. MS was diagnosed based on 2010 McDonald criteria and Brain Magnetic Resonance Imaging. Dietary intake was assessed by using a validated semi-quantitative food frequency questionnaire. Odds ratio and 95% confidence interval of MS was calculated in different food item groups using multiple logistic regression models adjusted for potentially confounding variables and compared between the two groups. 

Results: There was no significant difference between age (34.62 ±9.68vs. 33.96±8.75) and BMI (23.96 ±4.07 vs. 24.47 ±4.07) of MS and control group respectively. Higher intake of processed meat (OR (95% CI)) = (2.07(1.18-3.63) and non-processed meat (1.38(1.13-1.68)) was found in the MS group compared with the control. 

Conclusion: Higher intake of processed meat and non-processed meat is associated with increased risk of MS. Further studies on the probable role of these nutritional factors in the pathogenesis of MS are suggested.

The pathophysiology and mechanism of Breath-Holding Spells (BHS) remain controversial, and the relationship between BHS and anemia has not been clarified, although iron supplementation appears to be effective in many patients. We aimed to assess the probable relation of iron level with initiation of these spells in children.

Materials & Methods

Overall, 42 children with a diagnosis of BHS, aged between 6 months to 2 yr were enrolled during Mar 2015 to Dec 2016 at Rasht 17th Shahrivar Hospital, Rasht, northern Iran. Ferrous sulfate solution prescribed 6 mg/kg/d, 3 times daily, for all of cases, regardless of their iron levels, and the response to the treatment was evaluated.

Results

Twenty-five patients were boys (59.52%). The mean age for all patients was 11.71±4.63 months. Positive family history detected in 33.33%; iron deficiency anemia in 21.42%, depletion of iron stores in 52.38%, and normal iron status in 26.19% of cases. Simple spells showed significantly higher mean of Hb in comparison with severe spells (P=0.008); also increased number of spells per month significantly decreased the mean of Hb (P=0.007). Mean frequency of spells was 40.14±47.08 before and 11.14±31.10 after iron therapy, per month (P<0.0001). Overall, 32 patients (76.19%) had complete control of spells, 7 patients (16.66%) partial, 2 cases (4.76%) weak, and 1 child (2.38%) no response after iron therapy.

Conclusion

Iron deficiency anemia may have an important role in BHS, and treatment of anemia may decrease number of the spells.

Objective: Children affected with spastic cerebral palsy have a lot of difficulties in terms of movement and balance. Balance is one of the necessary variables of movement, which facilitates functional skills. The aim of this inter rater & test-retest reliability study relating to Pediatric Balance Scale (PBS) for children withspastic cerebral palsy, was based on mild to moderate motor impairment or loss of movement.

Materials and Methods: In this analytical-descriptive research performed in the rehabilitation centers, south of Tehran, Iran in 2016, psychometric method was used. For investigating the inter-rater reliability, two examiners performed the scale simultaneously with 50 children with spastic cerebral palsy. Moreover, to investigate the test-retest reliability, the scale was implemented by one examiner, in two different sessions, among 50 children with spastic cerebral palsy. There was a two-week period between the first and the second session.

Results : The inter rater reliability (ICC = 0/99) as well as the  test-retest reliability (1/100) was quite high

Conclusion

PBS is appropriate for measuring functional balance in children with spastic cerebral palsy with mild to moderate motor impairment.

Mucopolysaccharidosis IIIB (MPS IIIB) (Sanfilippo Syndrome Type B; OMIM 252920) is an autosomal recessive metabolic disorder caused by mutations in the NAGLU gene which encode for lysosomal enzyme N-acetyl-glucosaminidase, involved in degradation of complex polysaccharide, heparan sulfate. The disease characterized by progressive cognitive decline and behavioral difficulties and motor function retardation. In this study, using targeted exome sequencing, we identified a novel heterozygote deletion variant (c.1294-1304 del CTCTTCCCCAA, p.432LeufsX25) in the NAGLU gene in consanguineous parent of a child who was dying in her 14 years old where the diagnosis of death was Mucopolysaccharidosis. Sanger sequencing was used to confirm the candidate pathogenic variants in extended family members and segregation analysis. Computational docking using the Molegro Virtual Docker (MVD) 6.0.1 software confirmed different affinity binding of truncated protein for its ligand-Acetyl-D-Glucosamine. Moreover, with I-TASSER software functional alterations between wild and mutant proteins evaluated. The variant was classified as pathogenic based on the American College of Medical Genetics and Genomics guideline. This study expands the spectrum of NAGLU pathogenic variants and confirms the utility of targeted NGS sequencing in genetic diagnosis and also the utility and power of additional family information.

Idiopathic neuralgic amyotrophy (INA) is a disorder presented with acute severe pain in the upper extremity, followed by muscle weakness, paralysis and atrophy. INA is rare in children and few reports are found in the literature. Here, we report a case of INA in an 8-year old boy following pharyngitis.